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  2. NDUFA12 - NADH:ubiquinone oxidoreductase subunit A12 Gene

NDUFA12 - NADH:ubiquinone oxidoreductase subunit A12 Gene

中文名称:NADH:泛醌氧化还原酶亚基 A12

种属: Homo sapiens

同用名: B17.2; DAP13; MC1DN23

基因 ID: 55967 | 基因类型: protein coding

关于 NDUFA12

Cytogenetic location: 12q22 Genomic coordinates (GRCh38): 12:94,971,333-95,003,697 (from NCBI)

This gene has 13 transcripts (splice variants), 218 orthologues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 72.7), colon (RPKM 50.9) and 25 other tissues.

功能概要

该基因编码的蛋白质是线粒体复合物 1 的一部分,是线粒体氧化磷酸化系统的一部分。复合物 1 将电子从 NADH 转移到泛醌,为生成 ATP 建立质子梯度。由于线粒体复合物 1 缺陷,该基因的突变与 Leigh 综合征有关。该基因的假基因位于 5 号和 13 号染色体上。可变剪接导致多个转录变体。[RefSeq 提供,2012 年 4 月]

This gene encodes a protein which is part of mitochondrial complex 1, part of the Oxidative Phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]

NDUFA12 基因产物(2)

mRNA Protein Name
NM_001258338.2 NP_001245267.1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 isoform b
NM_018838.5 NP_061326.1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 isoform a
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitochondrial ATP synthesis coupled electron transport IMP
IMP: 通过突变表型推断
24746669 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial inner membrane IDA
IDA: 通过直接分析推断
28844695 GOA
part of respiratory chain complex I IDA
IDA: 通过直接分析推断
12611891 GOA
part of respiratory chain complex I IMP
IMP: 通过突变表型推断
24746669 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

NDUFA12 蛋白结构

NDUFA12

NDUFA12: NADH ubiquinone oxidoreductase subunit NDUFA12 (36 - 137)

  • 0
  • 100
  • 145 a.a.
蛋白主名 其他名称

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12

13 kDa differentiation-associated protein

关联疾病

疾病名称 别名
Mitochondrial Complex I Deficiency, Nuclear Type 23

MC1DN23

Mitochondrial Complex 1 Deficiency, Nuclear Type 23

Nuclear Type Mitochondrial Complex I Deficiency 23

Leigh Syndrome With Leukodystrophy

Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy

Leigh Disease With Leukodystrophy

Leigh Syndrome

Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

LS

Sne

Leigh'S Disease

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

Subacute Necrotizing Encephalomyelopathy

Necrotizing Encephalopathy Infantile Subacute Of Leigh

Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

Infantile Necrotizing Encephalomyelopathy

Juvenile Subacute Necrotizing Encephalomyelopathy

Leigh'S Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy

Juvenile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

Leigh Syndrome Due To Mitochondrial Complex V Deficiency

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Maternally Inherited Leigh Syndrome

Subacute Necrotising Encephalomyelopathy

Subacute Necrotising Encephalopathy

Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency

Nadh:Q(1) Oxidoreductase Deficiency

MC1DN1

Nadh-Coenzyme Q Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex I Deficiency

Isolated Nadh-Coenzyme Q Reductase Deficiency

Isolated Nadh-Coq Reductase Deficiency

Isolated Nadh-Ubiquinone Reductase Deficiency

Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

Nuclear Type Mitochondrial Complex I Deficiency 1

Isolated Complex I Deficiency

Complex 1 Mitochondrial Respiratory Chain Deficiency

Nadh Coenzyme Q Reductase Deficiency

Complex I Mitochondrial Respiratory Chain Deficiency

Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

Nadh:Ubiquinone Oxidoreductase Deficiency

Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Placenta Praevia

Placenta Previa

Haemorrhage From Placenta Previa

Placenta Previa Haemorrhage

Lateral Placenta

Low Implantation Of Placenta Nos Or With Haemorrhage

Total Placenta Previa

Total Placenta Praevia Nos Or With Haemorrhage

Placental Previa Haemorrhage

Pp - [Placenta Previa]

Placenta Previa Marginalis

Placenta Previa Partialis

Partial Placenta Previa

Placenta Previa Centralis

Low Implantation Of Placenta

Low Implantation Or Insertion Of Placenta

Low Insertion Of Placenta

Low Lying Placenta

Marginal Placenta

Marginal Placenta Praevia Nos Or With Haemorrhage

Marginal Placenta Previa

Marginal Placental Haemorrhage

Partial Placenta Praevia Nos Or With Haemorrhage

Retinal Arteries, Tortuosity Of

Retinal Arterial Tortuosity

Retinal Hemorrhage With Vascular Tortuosity

RATOR

Tortuosity Of Retinal Arteries

Retinal Arteriolar Tortuosity

Familial Isolated Retinal Arterial Tortuosity

Tortuosity, Arteries, Retinal

Leukodystrophy

Leukodystrophies

Myopathy

Muscular Diseases

Myopathies

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Bos taurus NDUFA12 VGNC VGNC:31945
Rattus norvegicus NDUFA12 RGD RGD:1311462
Canis familiaris NDUFA12 VGNC VGNC:43685
Mus musculus NDUFA12 MGD MGI:1913664